CDG-Id in two siblings with partially different phenotypes.

Abstract

We present two sibs with congenital disorder of glycosylation (CDG) type Id. Each shows severe global delay, failure to thrive, seizures, microcephaly, axial hypotonia, and disaccharidase deficiency. One sib has more severe digestive issues, while the other is more neurologically impaired. Each is compound heterozygous for a novel point mutation and an already known mutation in the ALG3 gene that leads to the synthesis of a severely truncated oligosaccharide precursor for N-glycans. The defect is corrected by introduction of a normal ALG3 cDNA. CDG should be ruled out in all patients with severe seizures and failure to thrive. (c) 2007 Wiley-Liss, Inc.

• Authors: Christian Kranz, Liangwu Sun, Erik A Eklund, Donna Krasnewich, Janet R Casey, Hudson H Freeze
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 143A Issue 13 Pg. 1414-20 (Jul 01 2007) ISSN: 1552-4825 [Print] United States
• PMID: 17551933 (Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)

Chemical References

• DNA, Complementary
• ALG3 protein, human
• Mannosyltransferases

Topics

• Blindness (diagnosis, etiology)
• Child
• Congenital Disorders of Glycosylation (complications, diagnosis, genetics)
• DNA Mutational Analysis
• DNA, Complementary (genetics)
• Diagnosis, Differential
• Female
• Genetic Complementation Test
• Glycosylation
• Heterozygote
• Humans
• Male
• Mannosyltransferases (genetics)
• Muscle Hypotonia (diagnosis, etiology)
• Mutation
• Phenotype
• Seizures (diagnosis, etiology)
• Siblings